Canonical Allele Identifier: CA376072290

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828466A>G (hg19) ; chr10:g.18539537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539537A>G , CM000672.2:g.18539537A>G	GRCh38
NC_000010.10:g.18828466A>G , CM000672.1:g.18828466A>G	GRCh37
NC_000010.9:g.18868472A>G	NCBI36
NG_016195.1:g.403861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1652A>G (CACNB2)	ENSP00000366532.4:p.Asp551Gly
ENST00000377319.9:c.1517A>G (CACNB2)	ENSP00000366536.3:p.Asp506Gly
ENST00000645287.2:c.1640A>G (CACNB2)	ENSP00000496203.1:p.Asp547Gly
ENST00000282343.13:c.1712A>G (CACNB2)	ENSP00000282343.8:p.Asp571Gly
ENST00000324631.13:c.1796A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asp599Gly
ENST00000377315.5:c.1652A>G (CACNB2)	ENSP00000366532.4:p.Asp551Gly
ENST00000377319.8:c.1517A>G (CACNB2)	ENSP00000366536.3:p.Asp506Gly
ENST00000377329.10:c.1634A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp545Gly
ENST00000377331.8:c.1421A>G (CACNB2)	ENSP00000366548.4:p.Asp474Gly
ENST00000643096.2:c.1598A>G (CACNB2)	ENSP00000494209.2:p.Asp533Gly
ENST00000645287.1:c.1640A>G (CACNB2)	ENSP00000496203.1:p.Asp547Gly
ENST00000647168.2:c.*937A>G (CACNB2)	ENSP00000495854.2:n.*937A>G
ENST00000650685.1:c.1538A>G (CACNB2)	ENSP00000498460.1:p.Asp513Gly
ENST00000651330.1:c.*1070A>G (CACNB2)	ENSP00000498457.1:n.*1070A>G
ENST00000651468.1:c.1353A>G (CACNB2)	ENSP00000498352.1:n.1353A>G
ENST00000651928.1:c.*1035A>G (CACNB2)	ENSP00000499177.1:n.*1035A>G
ENST00000652391.1:c.1616A>G (CACNB2)	ENSP00000498938.1:p.Asp539Gly
ENST00000652478.1:c.*896A>G (CACNB2)	ENSP00000498812.1:n.*896A>G
ENST00000282343.12:c.1712A>G (CACNB2)	ENSP00000282343.8:p.Asp571Gly
ENST00000324631.11:c.1796A>G (CACNB2)	ENSP00000320025.7:p.Asp599Gly
ENST00000352115.10:c.1724A>G (CACNB2)	ENSP00000344474.6:p.Asp575Gly
ENST00000377315.4:c.1652A>G (CACNB2)	ENSP00000366532.4:p.Asp551Gly
ENST00000377319.7:c.1517A>G (CACNB2)	ENSP00000366536.3:p.Asp506Gly
ENST00000377328.5:c.1046A>G (CACNB2)	ENSP00000366545.1:p.Asp349Gly
ENST00000377329.8:c.1634A>G (CACNB2)	ENSP00000366546.4:p.Asp545Gly
ENST00000377331.6:c.1640A>G (CACNB2)	ENSP00000366548.2:p.Asp547Gly
ENST00000396576.6:c.1631A>G (CACNB2)	ENSP00000379821.2:p.Asp544Gly
ENST00000612134.4:c.1500A>G (CACNB2)	ENSP00000480563.1:n.1500A>G
ENST00000612743.1:c.308A>G (CACNB2)	ENSP00000478676.1:p.Asp103Gly
ENST00000615785.4:c.881A>G (CACNB2)	ENSP00000480260.1:p.Asp294Gly
ENST00000617363.4:c.1559A>G (CACNB2)	ENSP00000479756.1:p.Asp520Gly
NM_000724.3:c.1631A>G (CACNB2)	NP_000715.2:p.Asp544Gly
NM_001167945.1:c.1598A>G (CACNB2)	NP_001161417.1:p.Asp533Gly
NM_201570.2:c.1652A>G (CACNB2)	NP_963864.1:p.Asp551Gly
NM_201571.3:c.1712A>G (CACNB2)	NP_963865.2:p.Asp571Gly
NM_201572.3:c.1640A>G (CACNB2)	NP_963866.2:p.Asp547Gly
NM_201590.2:c.1634A>G (CACNB2)	NP_963884.2:p.Asp545Gly
NM_201593.2:c.1682A>G (CACNB2)	NP_963887.2:p.Asp561Gly
NM_201596.2:c.1796A>G (CACNB2)	NP_963890.2:p.Asp599Gly
NM_201597.2:c.1724A>G (CACNB2)	NP_963891.1:p.Asp575Gly
XM_005252588.2:c.1538A>G (CACNB2)	XP_005252645.1:p.Asp513Gly
XM_005252591.2:c.956A>G (CACNB2)	XP_005252648.1:p.Asp319Gly
XM_006717502.2:c.1616A>G (CACNB2)	XP_006717565.1:p.Asp539Gly
XM_011519659.1:c.1562A>G (CACNB2)	XP_011517961.1:p.Asp521Gly
XM_011519660.1:c.1517A>G (CACNB2)	XP_011517962.1:p.Asp506Gly
NM_001330060.1:c.1517A>G (CACNB2)	NP_001316989.1:p.Asp506Gly
XM_005252588.4:c.1538A>G (CACNB2)	XP_005252645.1:p.Asp513Gly
XM_005252591.3:c.956A>G (CACNB2)	XP_005252648.1:p.Asp319Gly
XM_006717502.3:c.1616A>G (CACNB2)	XP_006717565.1:p.Asp539Gly
XM_011519659.2:c.1562A>G (CACNB2)	XP_011517961.1:p.Asp521Gly
XM_017016625.1:c.956A>G (CACNB2)	XP_016872114.1:p.Asp319Gly
XR_001747060.1:n.2423+2532T>C (NSUN6)
XR_001747198.1:n.1921A>G (CACNB2)
NM_000724.4:c.1631A>G (CACNB2)	NP_000715.2:p.Asp544Gly
NM_001167945.2:c.1598A>G (CACNB2)	NP_001161417.1:p.Asp533Gly
NM_001330060.2:c.1517A>G (CACNB2)	NP_001316989.1:p.Asp506Gly
NM_201570.3:c.1652A>G (CACNB2)	NP_963864.1:p.Asp551Gly
NM_201571.4:c.1712A>G (CACNB2)	NP_963865.2:p.Asp571Gly
NM_201572.4:c.1640A>G (CACNB2)	NP_963866.2:p.Asp547Gly
NM_201590.3:c.1634A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp545Gly
NM_201593.3:c.1682A>G (CACNB2)	NP_963887.2:p.Asp561Gly
NM_201596.3:c.1796A>G (CACNB2) MANE Select	NP_963890.2:p.Asp599Gly
NM_201597.3:c.1724A>G (CACNB2)	NP_963891.1:p.Asp575Gly